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Multiple congenital skull fractures as a presentation of Ehlers–Danlos syndrome type VIIC

✍ Scribed by Omer Bar-Yosef; Sylvie Polak-Charcon; Chen Hoffman; Zeev P. Feldman; Moshe Frydman; Jacob Kuint

Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
128 KB
Volume
146A
Category
Article
ISSN
1552-4825

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✦ Synopsis

Abstract

We describe a newborn infant with multiple congenital skull fractures and intracranial hemorrhage. He also had multiple skin folds suggesting a connective tissue abnormality. Electron microscopy of the skin biopsy showed collagen abnormalities with a “hieroglyphic appearance.” The analysis of the synthesis of collagen in the cultured dermal fibroblasts demonstrated an accumulation of procollagen I. Molecular analysis found a nonsense mutation Q225X in ADAMTS2 gene, which encodes procollagen I N‐terminal proteinase. All these findings confirmed the diagnosis of Ehlers–Danlos syndrome type VIIC (MIM 225410). Family studies suggested a founder effect in Ashkenazi Jews originating from Belarus. Prenatal diagnosis in the subsequent pregnancy reassured the parents that the fetus was an unaffected carrier. © 2008 Wiley‐Liss, Inc.

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Clinical, morphological, and biochemical
Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC
✍ Fujimoto, Atsuko; Wilcox, William R.; Cohn, Daniel H. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 227 KB 👁 1 views

Ehlers-Danlos syndrome (EDS) type VIIC is a newly recognized human disorder which results from failure to remove the aminoterminal propeptide of type I procollagen. Four cases of EDS type VIIC have been reported, and here we describe a fifth case. The propositus was a 1,445 g male infant born at 30